Spinocerebellar Ataxia 12 (SCA12)

Susan E. Holmes, Elizabeth O'Hearn, Samir K. Brahmachari, Shweta Choudhry, Achal K. Srivastava, Satish Jain, Christopher A. Ross, Russell L. Margolis

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant neurodegenerative disorder that is described in the pedigrees of German-American and Indian descent. The phenotype typically begins with tremor in the fourth decade, progressing to include ataxia and other cerebellar and cortical signs. SCA12 is associated with an expansion of a CAG repeat in the 5' region of the gene PPP2R2B, which encodes a brain-specific regulatory sub unit of the protein phosphatase PP2A. The repeat size ranges from 55-78 triplets in the mutant allele of affected individuals, and from 7-31 triplets in normal alleles. It is possible that an expansion mutation in PPP2R2B may influence PPP2R2B expression, perhaps altering the activity of PP2A, an enzyme implicated in multiple cellular functions, including cell cycle regulation, tau phosphorylation, and apoptosis. They cannot usually be distinguished based on clinical features alone, but 16 distinct SCAs to date have been identified with the elucidation of the genetic basis for each. Therapy for essential tremor is helpful in some cases. Psychiatric symptoms, which may cause significant morbidity in SCA12 and other SCAs, are successfully managed in SCA12 with anxiolytic and antidepressant medicines. Other palliative treatments, including social support, physical therapy, and occupational therapy help maximize patient functional capacity.

Original languageEnglish (US)
Title of host publicationGenetics of Movement Disorders
PublisherElsevier Inc.
Pages121-132
Number of pages12
ISBN (Print)9780125666527
DOIs
StatePublished - Jan 1 2003

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Fingerprint Dive into the research topics of 'Spinocerebellar Ataxia 12 (SCA12)'. Together they form a unique fingerprint.

  • Cite this

    Holmes, S. E., O'Hearn, E., Brahmachari, S. K., Choudhry, S., Srivastava, A. K., Jain, S., Ross, C. A., & Margolis, R. L. (2003). Spinocerebellar Ataxia 12 (SCA12). In Genetics of Movement Disorders (pp. 121-132). Elsevier Inc.. https://doi.org/10.1016/B978-012566652-7/50015-0